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Year | Number of Results |
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2019 | 2 |
2020 | 2 |
2024 | 0 |
PubMed (cited) for id: 619234
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A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Eur J Hum Genet. 2020 Apr;28(4):461-468. doi: 10.1038/s41431-019-0539-6. Epub 2019 Nov 6.
Eur J Hum Genet. 2020.
PMID: 31695177
Free PMC article.
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Créton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI.
Terhal PA, et al.
Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14.
Eur J Hum Genet. 2020.
PMID: 31089205
Free PMC article.
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